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Brain biopsy

Cristian de Quintana-Schmidt, Andreas Leidinger, Joan Molet Teixidó, Gerardo Conesa Bertrán
BACKGROUND: Few studies have been published about percutaneous techniques for the management of surgical bed hemorrhage during a stereotactic biopsy, a serious complication that may affect patient outcome. We describe the injection of a thrombin-gelatin matrix through the biopsy cannula as an effective method to arrest surgical bed bleeding that does not respond to conventional methods of hemostasis. METHODS: We prospectively documented image-guided stereotactic brain biopsy procedures on 30 awake patients between July 2014 and July 2017 at our center...
October 13, 2018: World Neurosurgery
Konstantinos Tselios, Mery Deeb, Dafna D Gladman, Paula Harvey, Shadi Akhtari, Susanna Mak, Jagdish Butany, Murray B Urowitz
OBJECTIVE: Antimalarials (AM) are recommended for all systemic lupus erythematosus (SLE) patients without specific contraindications. Their main adverse effect is retinal damage; however, heart disease has been described in isolated cases. The aim of our study is to describe 8 patients with AM-induced cardiomyopathy (AMIC) in a defined SLE cohort. METHODS: Patients attending the Toronto Lupus Clinic and diagnosed with definite (based on endomyocardial biopsy; EMB) and possible AMIC were included [based on cardiac magnetic resonance imaging (cMRI) and other investigations]...
October 15, 2018: Journal of Rheumatology
Syed Muhammad Adnan Ali, Yumna Mirza, Zubair Ahmad, Nida Zahid, Syed Ather Enam
OBJECTIVE: Glioblastoma (GBM) is the most common adult primary brain tumour. Human cytomegalovirus (HCMV) has been studied for the past decade and conflicting results have been reported with no conclusive role has yet been established. Human papillomavirus (HPV) is involved in the pathogenesis of many cancers and has high prevalence in cervical and oral cancer patients of Pakistan. The objective of our study was to identify the prevalence of HCMV and HPV in Pakistani primary GBM patients...
October 12, 2018: World Neurosurgery
Paul O Phelps, Martha J Farber, Dale R Meyer
A 43-year-old woman was referred to an oculoplastic surgeon for the evaluation of 2 small pigmented lesions in the tarsal conjunctiva. She underwent a biopsy of the lesions, both of which were found to be consistent with metastatic melanoma. Follow-up with the patient revealed that she had been hospitalized for balance issues and headaches. An MRI of her brain revealed a hemorrhagic mass and several smaller foci suspicious for metastatic lesions. A thorough workup included an evaluation for bloody vaginal discharge...
September 2018: Ocular Oncology and Pathology
Mais Arwani, Abhishek Purohit, Abdullah Haddad, Sandeep Rana
Creutzfeldt-Jakob disease (CJD) is a well-described disease. It is characterized by rapidly progressive dementia, myoclonus, ataxia, pyramidal, and extrapyramidal signs. There are well-defined electroencephalogram and magnetic resonance imaging (MRI) findings, and markers found in the cerebrospinal fluid (CSF). The gold standard for diagnosing CJD remains brain biopsy. We present a case of a patient with a family history of biopsy-proven CJD who initially presented with symptoms of peripheral neuropathy. A month later, he developed ataxia, ophthalmoparesis, and then dysarthria...
October 2018: Avicenna Journal of Medicine
Franca Wagner, Lorenz Grunder, Arsany Hakim, Nicole Kamber, Michael P Horn, Julia Muellner, Robert Hoepner, Roland Wiest, Imke Metz, Andrew Chan, Anke Salmen
Objective: Differential diagnosis of neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) or mimics can be challenging, especially in patients with atypical presentations and negative serostatus for aquaporin-4 antibodies (AQP4-Ab). This brief research report describes magnetic resonance imaging (MRI) findings focusing on quantitative apparent diffusion coefficient (ADC) histogram analysis as a potential tool to differentiate NMOSD from MS. Methods: Longitudinal MRI data obtained during routine clinical examinations were retrospectively analyzed in a patient with histologically determined cerebral NMOSD, a patient with an acute tumefactive MS lesion, and a patient with ischemic stroke...
2018: Frontiers in Neurology
Silvano Re, Asli Aybike Dogan, Dorit Ben-Shachar, Gregor Berger, Anna Maria Werling, Susanne Walitza, Edna Grünblatt
In the last decade, there is an increasing application of induced pluripotent stem cells (iPSCs) for disease modeling. The iPSC technology enables the study of patient-specific neuronal cell lines in vitro to evaluate dysfunction at the cellular level and identify the responsible genetic factors. This approach might be particularly valuable for filling the gap of knowledge at the cellular and molecular levels underlying the pathophysiology of various neurodevelopmental and/or psychiatric disorders, such as attention-deficit hyperactivity disorder (ADHD)...
2018: Frontiers in Cellular Neuroscience
Ayush Agarwal, Deepti Vibha, Rohan Chawla, Mehar Chand Sharma
We present a case of a 23-year-old man with history of fever followed by painless complete vision loss, with subsequent new-onset refractory status epilepticus (NORSE). He initially developed bilateral retinitis. A few days later, he started having focal seizures, and subsequently developed super-refractory status epilepticus, requiring anaesthetic agents. MRI brain revealed multifocal cortical and subcortical hyperintensities in occipital and temporoparietal regions without contrast enhancement. MRI repeated a month later showed new lesions with non-visualisation of some previous lesions...
October 12, 2018: BMJ Case Reports
Chae Hong Lim, Tae Ran Ahn, Seung Hwan Moon, Young Seok Cho, Joon Young Choi, Byung-Tae Kim, Kyung-Han Lee
OBJECTIVES: We investigated the capacity of fluorodeoxyglucose (FDG) PET/CT features for stratifying probability of metastasis for single-bone FDG lesions in non-small-cell lung cancer (NSCLC). METHODS: Subjects were 118 newly diagnosed NSCLC patients with a solitary bone FDG lesion and no evidence of other distant metastasis based on PET/CT, brain MRI, and contrast-enhanced chest CT. Bone lesion SUVmax and CT findings, primary tumor SUVmax , clinical T stage, and N stage were analyzed...
October 12, 2018: European Radiology
Muharrem Yunce, Nargiz Muganlinskaya, Stephen Selinger
INTRODUCTION: Intravascular large B-cell lymphoma (IVLBCL) is an uncommon disease with a poor prognosis if not diagnosed early. It can present with central nervous system (CNS) manifestations. The diagnosis of IVCBCL is difficult to make given its varied clinical manifestations and the lack of a specific diagnostic modality. CASE PRESENTATION: We report an interesting case of IVLBCL presenting as bilateral strokes. The diagnosis was made by a random skin biopsy, which confirmed IVLBCL...
October 2018: Medicine (Baltimore)
Liye Xu, Jin Cheng Song, Xiu Hua Sun, Zi Fen Gao, Li Lv, Jie Zhu
RATIONALE: Central nervous system (CNS) infiltration of Richter's syndrome (RS) is rare and only a few cases were discussed. Of these published cases, either they were accompanied with lymph node involvement or with a history of chronic lymphocytic leukemia (CLL). To our knowledge, this is the first published case of RS of the brain and meninges diagnosed concurrently with CLL in the absence of any evidence of lymphoma outside of the CNS. PATIENT CONCERNS: A 67-year-old female presented with slurred speech, headache, and left-sided hemiparesis...
October 2018: Medicine (Baltimore)
Hyunkyung Jang, Ji Young Rho, Young Ju Suh, Yeon Joo Jeong
PURPOSE: We presented details and incidence of systemic arterial embolism (SAE) following a CT-guided percutaneous transthoracic needle biopsy (PTNB) and evaluated risk factors for SAEs. METHODS: We retrospectively evaluated 1014 PTNBs performed in our hospital from 2005 to 2017. SAE was identified in the pulmonary vein, left heart, coronary artery, and aorta by reviewing post-biopsy CT images. Limited post-biopsy CT scans only covering the region biopsied were available until the first case of SAE was identified (n = 503)...
September 11, 2018: Clinical Imaging
Connor G O'Leary, Lynda Corrigan, Petra Martin, Anne Horgan, Miriam O'Connor, Paula Calvert
A 66-year-old non-smoker was diagnosed with stage IIIB, epidermal growth factor receptor (EGFR) mutated, squamous cell lung carcinoma. Treatment included chemotherapy, 35 fractions of radiotherapy and later Gefitinib for 3.5 years. On progression he developed a solitary brain and liver lesion. The brain lesion was excised and histology revealed adenocarcinoma of a lung primary. Afatanib was commenced for 1 further year. At the second time of progression re-biopsy identified small cell carcinoma. He completed four cycles of Carboplatin and Etoposide however deteriorated on completion of chemotherapy...
October 2018: Oxford Medical Case Reports
Md Mahdi Hasan-Olive, Rune Enger, Hans-Arne Hansson, Erlend A Nagelhus, Per Kristian Eide
Idiopathic normal pressure hydrocephalus (iNPH) is a subtype of dementia that may be successfully treated with cerebrospinal fluid (CSF) diversion. Recently, magnetic resonance imaging (MRI) using a MRI contrast agent as a CSF tracer revealed impaired clearance of the CSF tracer from various brain regions such as the entorhinal cortex of iNPH patients. Hampered clearance of waste solutes, for example, soluble amyloid-β, may underlie neurodegeneration and dementia in iNPH. The goal of the present study was to explore whether iNPH is associated with altered subcellular distribution of aquaporin-4 (AQP4) water channels, which is reported to facilitate CSF circulation and paravascular glymphatic drainage of metabolites from the brain parenchyma...
October 10, 2018: Glia
Zhuqing Zhang, Weiwei Fu, Minghui Wang, Lei Niu, Bin Liu, Yingbin Jiao, Xuejun Liu
A 29-year-old male with a 4-month history of binocular temporal visual field defect, 1-month history of memory loss and 5-day history of headache was admitted to our hospital. Brain MRI showed progressive signal abnormalities in the brain parenchyma. His laboratory tests showed elevated serum IgG4 and liver dysfunction. Abdominal CT, ultrasound and liver biopsy showed chronic liver disease. According to the diagnostic criteria of IgG4-related disease, IgG4-related inflammatory pseudotumor of brain parenchyma was considered...
October 10, 2018: Acta Neurologica Belgica
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Susan Blaser, Sohnee Ahmed, Jessie Cameron, Kamalendra Singh, Peter N Ray, Carolyn K Suzuki, Grace Yoon
LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant, c.2282 C > T, (p.Pro761Leu), by whole-exome and Sanger sequencing in two siblings born to healthy consanguineous parents. Both siblings presented with stepwise regression during infancy, profound hypotonia and muscle weakness, severe intellectual disability and progressive cerebellar atrophy on brain imaging. Muscle biopsy revealed the absence of ragged-red fibers, which are often seen in mitochondrial DNA (mtDNA) diseases and other muscle disorders...
October 9, 2018: Human Molecular Genetics
Matthias N Ungerer, Ricarda Diem, Arne Wrede, Kristin Huang, Stefan Hähnel, Wolfgang Wick, Frank Winkler
We report a case of a rapidly progressing, relapsing-remitting, steroid-responsive granulocytic encephalitis without any signs of peripheral nervous system or other organ involvement. It apparently had an immune-mediated etiology that could not be attributed to any known disease entity. A 22-year-old man presented with rapidly progressive severe neurological symptoms caused by encephalitis. Examination of the cerebrospinal fluid as well as brain biopsy showed extensive accumulation of neutrophilic granulocytes with no hints of an infectious agent...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
Qing Zhang, Kun Liu, Wensheng Yang, Wei Shao, Dan Liu, Haitao Lan, Tianhai Ji
Many tumors, especially gliomas, contain an isocitrate dehydrogenase (IDH) mutation that can be used for clinical diagnosis and prognosis. Our study aimed to develop a new reliable detection assay for IDH1 and IDH2 mutations for clinical diagnosis based on the allele-specific (AS) coamplification with lower denaturing-polymerase chain reaction (COLD-PCR) and probe melting curve analysis (PMCA). The method includes 3 elements allowing for the sensitive detection of low-abundance mutations: (1) PCR amplification of the target fragments with AS primers; (2) COLD-PCR; and (3) PMCA for differentiating the different mutations after amplification...
October 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
Maria Tsoli, Carol Wadham, Mark Pinese, Tim Failes, Swapna Joshi, Emily Mould, Julia X Yin, Velimir Gayevskiy, Amit Kumar, Warren Kaplan, Paul G Ekert, Federica Saletta, Laura Franshaw, Jie Liu, Andrew Gifford, Martin A Weber, Michael Rodriguez, Richard J Cohn, Greg Arndt, Vanessa Tyrrell, Michelle Haber, Toby Trahair, Glenn M Marshall, Kerrie McDonald, Mark J Cowley, David S Ziegler
Pediatric high grade gliomas (HGG) are primary brain malignancies that result in significant morbidity and mortality. One of the challenges in their treatment is inter- and intra-tumoral heterogeneity. Precision medicine approaches have the potential to enhance diagnostic, prognostic and/or therapeutic information. In this case study we describe the molecular characterization of a pediatric HGG and the use of an integrated approach based on genomic, in vitro and in vivo testing to identify actionable targets and treatment options...
October 9, 2018: Cancer Biology & Therapy
Isaac H Solomon, Hojun Li, Leslie A Benson, Lauren A Henderson, Barbara A Degar, Mark P Gorman, Christine N Duncan, Hart G Lidov, Sanda Alexandrescu
Familial hemophagocytic lymphohistiocytosis (HLH) is an immune hyperactivation syndrome caused by mutations in genes associated with cytotoxic T-cell and NK-cell function. While neurological manifestations frequently accompany systemic inflammation at initial presentation, isolated central nervous system (CNS) involvement is rare, and the histological correlates are not well described. We present 3 patients (ages 5, 6, and 7 years) with CNS-isolated familial HLH, who presented with a variety of neurological symptoms and underwent brain biopsies for multifocal enhancing supratentorial and infratentorial lesions...
September 22, 2018: Journal of Neuropathology and Experimental Neurology
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